Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.Q398*

ATXN1

422 papers

RefSeq Summary

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clini...

Pfam Domains

ATXN-1_Caa 1–205UCSCAtaxin-1 like family
ATXN-1_Caa 195–558UCSCAtaxin-1 like family
AXHaa 574–687UCSCAtaxin-1 and HBP1 module (AXH)

Gene Aliases

HGNC Name

ataxin 1

HGNC Previous Symbol

SCA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001128164.2
p.Q398*
c.1192C>T
Surrounding Variants
1 paper
NM_001128164.2
p.D394Y
c.1180G>T
1 paper
NM_001128164.2
p.D394N
c.1180G>A
1 paper
NM_001128164.2
p.H402D
c.1204C>G
1 paper
NM_001128164.2
p.H402N
c.1204C>A
1 paper
NM_001128164.2
p.R403L
c.1208G>T
1 paper
NM_001128164.2
p.E404E
c.1212A>G
1 paper
NM_001128164.2
p.T390T
c.1170G>A
1 paper
NM_001128164.2
p.S388R
c.1164C>G
1 paper
NM_001128164.2
p.S388R
c.1164C>A
1 paper
NM_001128164.2
p.S388R
c.1162A>C
1 paper
NM_001128164.2
p.S408C
c.1223C>G
1 paper
NM_001128164.2
p.P386L
c.1157C>T
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